Canonical Allele Identifier: CA384364613

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32977005T>A (hg19) ; chr12:g.32824071T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824071T>A , CM000674.2:g.32824071T>A	GRCh38
NC_000012.11:g.32977005T>A , CM000674.1:g.32977005T>A	GRCh37
NC_000012.10:g.32868272T>A	NCBI36
NG_009000.1:g.77776A>T , LRG_398:g.77776A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.160A>T
ENST00000700559.2:c.1648A>T	ENSP00000515065.2:p.Ile550Phe
ENST00000700563.2:c.1648A>T	ENSP00000515066.2:p.Ile550Phe
ENST00000546498.2:n.335A>T
ENST00000700555.1:c.88A>T	ENSP00000515062.1:p.Ile30Phe
ENST00000700556.1:c.119A>T
ENST00000700559.1:c.863A>T
ENST00000700560.1:n.863A>T
ENST00000700561.1:n.989A>T
ENST00000700563.1:c.1602A>T
ENST00000700564.1:n.1652A>T
ENST00000070846.11:c.1780A>T	ENSP00000070846.6:p.Ile594Phe
ENST00000340811.9:c.1648A>T MANE Select	ENSP00000342800.5:p.Ile550Phe
ENST00000070846.10:c.1780A>T	ENSP00000070846.6:p.Ile594Phe
ENST00000340811.8:c.1648A>T	ENSP00000342800.4:p.Ile550Phe
ENST00000546498.1:n.335A>T
ENST00000552612.5:n.69A>T
ENST00000613243.1:c.1780A>T	ENSP00000478295.1:p.Ile594Phe
NM_001005242.2:c.1648A>T	NP_001005242.2:p.Ile550Phe
NM_004572.3:c.1780A>T , LRG_398t1:c.1780A>T	NP_004563.2:p.Ile594Phe
NM_001005242.3:c.1648A>T MANE Select	NP_001005242.2:p.Ile550Phe
NM_004572.4:c.1780A>T	NP_004563.2:p.Ile594Phe